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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-1752908-CCCTCCT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1752908&ref=CCCTCCT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1752908,
"ref": "CCCTCCT",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_001198994.2",
"consequences": [
{
"aa_ref": "EEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1331_1336delAGGAGG",
"hgvs_p": "p.Glu444_Glu445del",
"transcript": "NM_023018.5",
"protein_id": "NP_075394.3",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 446,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 3235,
"mane_select": "ENST00000341426.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_023018.5"
},
{
"aa_ref": "EEG",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1331_1336delAGGAGG",
"hgvs_p": "p.Glu444_Glu445del",
"transcript": "ENST00000341426.9",
"protein_id": "ENSP00000341679.5",
"transcript_support_level": 2,
"aa_start": 444,
"aa_end": null,
"aa_length": 446,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 3235,
"mane_select": "NM_023018.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341426.9"
},
{
"aa_ref": "EEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1766_1771delAGGAGG",
"hgvs_p": "p.Glu589_Glu590del",
"transcript": "ENST00000378625.5",
"protein_id": "ENSP00000367890.1",
"transcript_support_level": 1,
"aa_start": 589,
"aa_end": null,
"aa_length": 591,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1976,
"cdna_end": null,
"cdna_length": 3653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378625.5"
},
{
"aa_ref": "EEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1331_1336delAGGAGG",
"hgvs_p": "p.Glu444_Glu445del",
"transcript": "ENST00000341991.7",
"protein_id": "ENSP00000344340.3",
"transcript_support_level": 1,
"aa_start": 444,
"aa_end": null,
"aa_length": 446,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1421,
"cdna_end": null,
"cdna_length": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341991.7"
},
{
"aa_ref": "EEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1766_1771delAGGAGG",
"hgvs_p": "p.Glu589_Glu590del",
"transcript": "NM_001198994.2",
"protein_id": "NP_001185923.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 591,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1938,
"cdna_end": null,
"cdna_length": 3615,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198994.2"
},
{
"aa_ref": "EEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1358_1363delAGGAGG",
"hgvs_p": "p.Glu453_Glu454del",
"transcript": "ENST00000886141.1",
"protein_id": "ENSP00000556200.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 455,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 3252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886141.1"
},
{
"aa_ref": "EEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1352_1357delAGGAGG",
"hgvs_p": "p.Glu451_Glu452del",
"transcript": "ENST00000886139.1",
"protein_id": "ENSP00000556198.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 453,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1578,
"cdna_end": null,
"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886139.1"
},
{
"aa_ref": "EEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1352_1357delAGGAGG",
"hgvs_p": "p.Glu451_Glu452del",
"transcript": "ENST00000931659.1",
"protein_id": "ENSP00000601718.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 453,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 3310,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931659.1"
},
{
"aa_ref": "EEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1331_1336delAGGAGG",
"hgvs_p": "p.Glu444_Glu445del",
"transcript": "NM_001198993.2",
"protein_id": "NP_001185922.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 446,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1447,
"cdna_end": null,
"cdna_length": 3124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198993.2"
},
{
"aa_ref": "EEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1331_1336delAGGAGG",
"hgvs_p": "p.Glu444_Glu445del",
"transcript": "NM_001353641.2",
"protein_id": "NP_001340570.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 446,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 3180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353641.2"
},
{
"aa_ref": "EEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1331_1336delAGGAGG",
"hgvs_p": "p.Glu444_Glu445del",
"transcript": "ENST00000886130.1",
"protein_id": "ENSP00000556189.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 446,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1706,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886130.1"
},
{
"aa_ref": "EEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1331_1336delAGGAGG",
"hgvs_p": "p.Glu444_Glu445del",
"transcript": "ENST00000886131.1",
"protein_id": "ENSP00000556190.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 446,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1752,
"cdna_end": null,
"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886131.1"
},
{
"aa_ref": "EEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1331_1336delAGGAGG",
"hgvs_p": "p.Glu444_Glu445del",
"transcript": "ENST00000886132.1",
"protein_id": "ENSP00000556191.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 446,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886132.1"
},
{
"aa_ref": "EEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1331_1336delAGGAGG",
"hgvs_p": "p.Glu444_Glu445del",
"transcript": "ENST00000886133.1",
"protein_id": "ENSP00000556192.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 446,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1866,
"cdna_end": null,
"cdna_length": 3543,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886133.1"
},
{
"aa_ref": "EEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1331_1336delAGGAGG",
"hgvs_p": "p.Glu444_Glu445del",
"transcript": "ENST00000886134.1",
"protein_id": "ENSP00000556193.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 446,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1618,
"cdna_end": null,
"cdna_length": 3295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886134.1"
},
{
"aa_ref": "EEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1331_1336delAGGAGG",
"hgvs_p": "p.Glu444_Glu445del",
"transcript": "ENST00000886136.1",
"protein_id": "ENSP00000556195.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 446,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1670,
"cdna_end": null,
"cdna_length": 3347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886136.1"
},
{
"aa_ref": "EEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1331_1336delAGGAGG",
"hgvs_p": "p.Glu444_Glu445del",
"transcript": "ENST00000886137.1",
"protein_id": "ENSP00000556196.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 446,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1518,
"cdna_end": null,
"cdna_length": 3195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886137.1"
},
{
"aa_ref": "EEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1331_1336delAGGAGG",
"hgvs_p": "p.Glu444_Glu445del",
"transcript": "ENST00000886138.1",
"protein_id": "ENSP00000556197.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 446,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1514,
"cdna_end": null,
"cdna_length": 3191,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886138.1"
},
{
"aa_ref": "EEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1331_1336delAGGAGG",
"hgvs_p": "p.Glu444_Glu445del",
"transcript": "ENST00000886140.1",
"protein_id": "ENSP00000556199.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 446,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1611,
"cdna_end": null,
"cdna_length": 3281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886140.1"
},
{
"aa_ref": "EEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1331_1336delAGGAGG",
"hgvs_p": "p.Glu444_Glu445del",
"transcript": "ENST00000931657.1",
"protein_id": "ENSP00000601716.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 446,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 3224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931657.1"
},
{
"aa_ref": "EEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NADK",
"gene_hgnc_id": 29831,
"hgvs_c": "c.1331_1336delAGGAGG",
"hgvs_p": "p.Glu444_Glu445del",
"transcript": "ENST00000931658.1",
"protein_id": "ENSP00000601717.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 446,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 1481,
"cdna_end": null,
"cdna_length": 3155,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931658.1"
},
{
"aa_ref": "EEG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
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"acmg_classification": "Likely_benign",
"acmg_criteria": "BP3",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP3"
],
"verdict": "Likely_benign",
"transcript": "NM_001198994.2",
"gene_symbol": "NADK",
"hgnc_id": 29831,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1766_1771delAGGAGG",
"hgvs_p": "p.Glu589_Glu590del"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}